Hereditary Motor Sensory Neuropathy: Understanding Function Using Motion Analysis

Reference work entry

Abstract

Hereditary motor sensory neuropathies, or Charcot-Marie-Tooth disease, represent a heterogeneous group of inherited neuropathies that are characterized by progressive wasting and resulting weakness of the distal muscles in the legs and arms. Lower extremities are typically initially effected and, as result, impact ambulation. At present there is no curative treatment available; therefore, treatment of gait issues is often sought to help with ambulation and activities of daily living. Computerized motion analysis techniques have improved our understanding of the various presentations of hereditary neuropathies and can assist in making optimal treatment decisions to improve gait. These presentations include three distinct ankle variations: excessive equinus (toe walking), cavo-varus (lateral border weight bearing), and flail foot (heel weight bearing) patterns. As each patient presents differently in terms of deformity specifics and severity, a detailed analysis that describes ankle/foot function during gait in terms of foot pressures, muscle activity, kinematics, and kinetics along with clinical examination information such as muscle strength and passive range of motion is very beneficial. Assessment of treatment outcomes from bracing to orthopedic surgery as well as disease progression which also varies person to person is necessary to develop evidence-based treatment indications and goals. Motion analysis can play a very important role in the assessment of inherited neuropathies on both an individual patient basis and in research with the ultimate goal of improving treatment outcomes.

Keywords

Hereditary neuropathies Charcot-Marie-Tooth Clinical gait analysis Peak dorsiflexion Joint kinematics Joint kinetics Ankle 

Abbreviations

AFO

Ankle foot orthosis

CMT

Charcot-Marie-Tooth

EMG

Electromyography

PLS

Posterior leaf spring orthosis

References

  1. Burns J, Crosbie J, Hunt A, Ouvrier R (2005) The effect of pes cavus on foot pain and plantar pressure. Clin Biomech (Bristol, Avon) 20:877–882CrossRefGoogle Scholar
  2. Burns J, Crosbie J, Ouvrier R, Hunt A (2006) Effective orthotic therapy for the painful cavus foot: a randomized controlled trial. J Am Pediatr Med Assoc 96:205–211CrossRefGoogle Scholar
  3. Burns J, Raymond J, Ouvrier R (2009) Feasibility of foot and ankle strength training in childhood Charcot-Marie-Tooth disease. Neuromuscul Disord 19:818–821CrossRefGoogle Scholar
  4. Burns J, Ouvrier R, Estilow T, Shy R, Laura M, Eichinger K, Muntoni F, Reilly MM, Pareyson D, Acsadi G, Shy ME, Finkel RS (2012) Symmetry of foot alignment and ankle flexibility in paediatric Charcot-Marie-Tooth disease. Clin Biomech (Bristol, Avon) 27:744–747CrossRefGoogle Scholar
  5. Charcot JM (1886) Sue une forme particulaire d'atrophie musculaire progressive souvent familial debutant par let pieds et les jambes et atteingnant plus tard les mains. Rev Med Paris 6:97–138Google Scholar
  6. Chetlin RD, Gutmann L, Tarnopolsky M, Ullrich IH, Yeater RA (2004) Resistance training effectiveness in patients with Charcot-Marie-Tooth disease: recommendations for exercise prescription. Arch Phys Med Rehabil 85:1217–1223CrossRefGoogle Scholar
  7. Crosbie J, Burns J, Ouvrier RA (2008) Pressure characteristics in painful pes cavus feet resulting from Charcot-Marie-Tooth disease. Gait Posture 28:545–551CrossRefGoogle Scholar
  8. Don R, Serrao M, Vinci P, Ranavolo A, Cacchio A, Ioppolo F, Paoloni M, Procaccianti R, Frascarelli F, De Santis F, Pierelli F, Frascarelli M, Santilli V (2007) Foot drop and plantar flexion failure determine different gait strategies in Charcot-Marie-Tooth patients. Clin Biomech (Bristol, Avon) 22:905–916CrossRefGoogle Scholar
  9. Dreher T, Wolf SI, Heitzmann D, Fremd C, Klotz MC, Wenz W (2014) Tibialis posterior tendon transfer corrects the foot drop component of cavovarus foot deformity in Charcot-Marie-Tooth disease. J Bone Joint Surg Am 96:456–462CrossRefGoogle Scholar
  10. Ferrarin M, Bovi G, Rabuffetti M, Mazzoleni P, Montesano A, Pagliano E, Marchi A, Magro A, Marchesi C, Pareyson D, Moroni I (2012) Gait pattern classification in children with Charcot-Marie-Tooth disease type 1A. Gait Posture 35:131–137CrossRefGoogle Scholar
  11. Garcia A, Combarros O, Calleja J, Berciano J (1998) Charcot-Marie-Tooth disease type 1A with 17p duplication in infancy and early childhood: a longitudinal clinical and electrophysiologic study. Neurology 50:1061–1067CrossRefGoogle Scholar
  12. Holmes JR, Hansen ST Jr (1993) Foot and ankle manifestations of Charcot-Marie-Tooth disease. Foot Ankle 14:476–486CrossRefGoogle Scholar
  13. Jani-Acsadi A, Ounpuu S, Pierz K, Acsadi G (2015) Pediatric Charcot-Marie-Tooth disease. Pediatr Clin N Am 62:767–786CrossRefGoogle Scholar
  14. Kuruvilla A, Costa JL, Wright RB, Yoder DM, Andriacchi TP (2000) Characterization of gait parameters in patients with Charcot-Marie-Tooth disease. Neurol India 48:49–55Google Scholar
  15. Mandarakas M, Hiller CE, Rose KJ, Burns J (2013) Measuring ankle instability in pediatric Charcot-Marie-Tooth Disease. J Child Neurol 28:1456–1462CrossRefGoogle Scholar
  16. Metaxiotis D, Accles W, Pappas A, Doederlein L (2000) Dynamic pedobarography (DPB) in operative management of cavovarus foot deformity. Foot Ankle Int 21:935–947CrossRefGoogle Scholar
  17. Newman CJ, Walsh M, O’sullivan R, Jenkinson A, Bennett D, Lynch B, O’brien T (2007) The characteristics of gait in Charcot-Marie-Tooth disease types I and II. Gait Posture 26:120–127CrossRefGoogle Scholar
  18. Ounpuu S (1996) An evaluation of the posterior leaf spring orthosis using joint kinematics and kinetics. J Gerontol A Biol Sci Med Sci 16:378–384Google Scholar
  19. Ounpuu S, Garibay E, Solomito M, Bell K, Pierz K, Thomson J, Acsadi G, Deluca P (2013) A comprehensive evaluation of the variation in ankle function during gait in children and youth with Charcot-Marie-Tooth disease. Gait Posture 38:900–906CrossRefGoogle Scholar
  20. Phillips MF, Robertson Z, Killen B, White B (2011) A pilot stud of a crossover trial with randomized use of ankle-foot orthoses for people with Charcot-Marie-Tooth disease. Clin Rehabil 26:534–544CrossRefGoogle Scholar
  21. Ramdharry GM, Day BL, Reilly MM, Marsden JF (2009) Hip flexor fatigue limits walking in Charcot-Marie-Tooth disease. Muscle Nerve 40:103–111CrossRefGoogle Scholar
  22. Ramdharry GM, Day BL, Reilly MM, Marsden JF (2012) Foot drop splints improve proximal as well as distal leg control during gait in Charcot-Marie-Tooth disease. Muscle Nerve 46:512–519CrossRefGoogle Scholar
  23. Rose KJ, Burns J, North KN (2010) Factors associated with foot and ankle strength in healthy preschool-age children and age-matched cases of Charcot-Marie-Tooth disease type 1A. J Child Neurol 25:463–468CrossRefGoogle Scholar
  24. Smith BG (2002) Hereditary sensory motor neuropathies. In: Fitzgerald RH, Kaufer H, Malkani AL (eds) Orthopaedics. Mosby, MissouriGoogle Scholar
  25. Thomas PK (1999) Overview of Charcot-Marie-Tooth disease type 1A. Ann N Y Acad Sci 883:1–5CrossRefGoogle Scholar
  26. Tooth HH (1886) The peroneal type of progressive muscular atrophy. MD thesis, University of CambridgeGoogle Scholar
  27. Vinci P, Perelli SL (2002) Footdrop, foot rotation, and plantarflexor failure in Charcot-Marie-Tooth disease. Arch Phys Med Rehabil 83:513–516CrossRefGoogle Scholar
  28. Vinci P, Serrao M, Pierelli F, Sandrini G, Santilli V (2006) Lower limb manual muscle testing in the early stages of Charcot-Marie-Tooth disease type 1A. Funct Neurol 21:159–163Google Scholar
  29. Ward CM, Dolan LA, Bennett DL, Morcuende JA, Cooper RR (2008) Long-term results of reconstruction for treatment of a flexible cavovarus foot in Charcot-Marie-Tooth disease. J Bone Joint Surg Am 90:2631–2642CrossRefGoogle Scholar

Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Center for Motion Analysis, Division of OrthopaedicsConnecticut Children’s Medical CenterFarmingtonUSA

Section editors and affiliations

  • Freeman Miller
    • 1
  1. 1.duPont Hospital for ChildrenWilmingtonUSA

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